摘要:

In a 9‐year‐old girl, the diagnosis of the Rieger syndrome, an autosomal dominant disorder of variable expressivity, was established on the basis of characteristic congenital ocular and dental anomalies. Cytogenetic analysis revealed ade novointerstitial deletion of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01042.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

The proposita was operated on in this hospital in 1980 for pyloric stenosis, at the age of 13 days, after vomiting had started 5 days previously, and the diagnosis had been confirmed on radiological investigation. Her older sister and two male cousins of the father had the same operation in Israel in infancy. The other nine affected individuals in the family were known to have had projectile vomiting for several months in infancy, and two of them died in infancy. They were all born in the Jewish community in Georgia, U.S.S.R. The male:female sex ratio was 2:2 for the operated cases, and 4:5 for those with projectile vomiting history. There was no skipping of a generation. This family indicates that pyloric stenosis can exceptionally be inherited as a simple autosomal dominant trait.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01043.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Ionizing radiation sensitivity was studied in a series of Huntington's Disease (HD) patients and controls by measurement of radiation‐induced chromosome aberrations in lymphocytes and by clonogenic survival of lymphoblastoid cell lines. As a group, HD patients were found to be significantly more radiosensitive than controls (p<0.001), but there was an overlap between values for the two groups such that an absolute distinction is not possible. These data are consistent with an association between HD and radiosensitivity but not with identity between HD and a radiosensitive phenotype, so that cellular radiosensitivity cannot be used for individual diagnosis. Analysis of three families including 5 HD patients and 11 first‐degree relatives confirmed this conclusion and demonstrated that even within a given family presymptomatic diagnosis cannot be based on measurement of radiosensitivity. However, the common association of cellular radiosensitivity with HD probands and their families provides a potential lead to the identification of HD gene(s) and so to an eventual understanding of the aetiopathogenesis of this disease at the molecular le

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01044.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Fibroblast strains from six subjects with ischemic heart disease (IHDs) were compared to strains from 43 subjects without a history of IHD (non‐IHDs), with respect to association (plasma membrane binding plus intracellular accumulation) and degradation of radio‐iodinated LDL (125I‐LDL). The subjects (25 females and 24 males) were selected on the criteria that they were twins (one from each pair), 58–61 years old, and living within 200 km of Oslo. None of them suffered from autosomal, dominant hypercholesterolemia, which is associated with reduced cell surface LDL receptor activity and increased susceptibility to IHD.There was a trend towards lower125I‐LDL association values in strains from IHDs than in strains from non‐IHDs. The difference was not statistically significant (P%0.11). However, fibroblast degradation of 125I‐LDL was significantly lower in cells from IHDs than in cells from non‐IHDs (P = 0.009).There was a significant negative correlation between, on one hand, serum total cholesterol level and on the other fibroblast association (P%0.03) or degradation (P = 0.04) of125I‐LDL.We have previously presented data indicating that fibroblast association of LDL may be determined by alternate genes at one single locus. Together with the present limited data, this raises the possibility that normal genes at the LDL receptor locus may render subjects more or less susceptible to ische

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01045.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A condition is described which is characterized by chorio‐retinal dysplasia, microcephaly and mental retardation, transmitted in an autosomal dominant fashion with variable expressivity. It is suggested that this condition is a distinct autosomal dominant syndrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01046.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Lp(a) lipoprotein shares the apoB antigen with low density lipoprotein (LDL). The Lp(a) antigen is unique for Lp(a) lipoprotein. Fibroblast association (i.e. plasma membrane binding plus intracellular accumulation), plasma membrane binding, intracellular accumulation and degradation of125I‐Lp(a) lipoprotein were studied in strains from subjects with or without autosomal dominant hypercholesterolemia (HC). Subjects without HC (non‐HCs) have cell surface receptors for low density lipoprotein (LDL receptors). On the average, HC heterozygotes have half‐normal LDL receptor activity and “receptor‐negative” HC homozygous cell strains lack functional receptors.Fibroblast processing of125I‐Lp(a) lipoprotein was compared to fibroblast processing of125I‐LDL. LDL receptor‐dependent processing of125I‐LDL was saturated at about 50 μg apo125I‐LDL ml‐1in non‐HC fibroblasts.125I‐Lp(a) lipoprotein was, however, largely processed independently of receptor mechanisms by non‐HC cells (highest concentration examined 150 μg apo125I‐Lp(a) lipoprotein ml‐1). Lp(a) lipoprotein did not interfere with125I‐LDL for fibroblast association, but inhibited125I‐LDL degradation. The interference with125I‐LDL degradation was time dependent Only slightly higher1251‐Lp(a) lipoprotein processing values were found in non‐HC and HC heterozygous strains than in “receptor‐negative” HC homozygous strains. However, non‐HC cells had more than tenfold higher125I‐LDL process

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01047.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb01048.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY